Premium
Genotype‐phenotype correlation in a French cohort of aniridia
Author(s) -
BremondGignac Dominique
Publication year - 2019
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2019.8003
Subject(s) - aniridia , pax6 , hypoplasia , medicine , glaucoma , ophthalmology , nystagmus , foveal , cornea , iris (biosensor) , disease , pathology , genetics , surgery , retinal , biology , computer security , radiology , gene , transcription factor , biometrics , computer science
Congenital aniridia consists in a complex malformation of the eye with congenital absence of iris. Aniridia is a rare panocular disorder affecting, beyond iris, cornea, angle structures, lens and fovea, and possibly associated with other anomalies.This genetic rare disease can cause severe visual impairment occurring from various mechanisms as glaucoma, limbal insufficiency and foveal hypoplasia. PAX6 gene is mainly involved in the disease. We aim to understand the features of patients with congenital aniridia, identifying the characteristics phenotypes of the disease and its associated anomalies. We analyse our patient cohort who underwent a complete ocular examination with ophthalmic exploration and who had genetic molecular analysis. Specific analysis of each ocular feature (as aniridia‐related keratopathy, glaucoma, cataract, foveal hypoplasia, optic nerve hypoplasia and other features) is detailed with early clinical signs that can be observed. An evaluation of risk factors is required for the follow‐up of aniridia patients in order to get a better therapeutic orientation.